N-of-1 genomic medicine for the rare pediatric genetic diseases

Expert Opinion on Orphan Drugs

Volumn 2, Issue 12, 2014, Pages 1279-1290

  Smith, Laurie D ^a,b   Kingsmore, Stephen F ^a,b  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

Drug repurposing; Individualized medical treatment; N of 1 studies; Rapid whole exome genome sequencing; Ultra rare genetic diso

Indexed keywords

ACAMPROSATE; ACETYLCYSTEINE; ATALUREN; ATORVASTATIN; BUMETANIDE; CARNITINE; CHOLESTEROL; CREATINE; EVEROLIMUS; GENTAMICIN; METIROSINE; NICOTINE PATCH; ORNITHINE; TRAMETINIB; UBIDECARENONE; UREA; URSODEOXYCHOLIC ACID;

CLINICAL TRIAL (TOPIC); DATA BASE; DIET SUPPLEMENTATION; DRUG REPOSITIONING; EVIDENCE BASED MEDICINE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOMICS; HUMAN; INBORN ERROR OF METABOLISM; KETOGENIC DIET; OFF LABEL DRUG USE; PEDIATRICS; PHARMACOGENOMICS; RARE DISEASE; REVIEW;

EID: 84912057790     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2014.979153     Document Type: Review

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